The Australian researchers plan to use the technique in an exome sequencing study of 25,000 individuals with epilepsy and aim to develop it into a clinical test.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
PerkinElmer Genetics will provide clinical whole-genome sequencing, data interpretation, and diagnostic reports to IDG for patients with neurological disorders.
A survey by Nature finds that most researchers want scientific meetings to continue virtually or with a virtual component, even after the pandemic ends.
Certain blood proteins may be able to distinguish COVID-19 patients who will become critically ill from those who will not, the Atlanta Journal-Constitution reports.
